Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001175224 | SCV004293755 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-07-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 917957). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 27225849). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1921Thrfs*15) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). |
Department Of Translational Genomics |
RCV001175224 | SCV001338748 | likely pathogenic | Autosomal recessive polycystic kidney disease | no assertion criteria provided | research |